A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583913



Internal ID16371322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:182178836..182378586hg38UCSC Ensembl
Innerchr2:183043563..183243313hg19UCSC Ensembl
Innerchr2:182751808..182951558hg18UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg38199751
hg19199751
hg18199751
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv927858
Samples
Known GenesPDE1A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583913
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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